Dystonia

An evaluation of the role of environmental factors in the disease penetrance of cervical dystonia

Background Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal dominant disorder; most gene carriers are non-manifesting despite having reached an adequate age for penetrance. It is hypothesised that genetic, epigenetic and …

Sexual dimorphism in temporal discrimination

The temporal discrimination threshold (TDT) is the shortest time interval at which two sensory stimuli presented sequentially are detected as asynchronous by the observer. TDTs are known to increase with age. Having previously observed shorter …

A comparison of stimulus presentation methods in temporal discrimination testing

While the pathogenesis of cervical dystonia remains unknown, recent animal and clinical experimental studies have indicated its probable mechanisms. Abnormal temporal discrim- ination is a mediational endophenotype of cervical dystonia and informs …

A headset method for measuring the visual temporal discrimination threshold in cervical dystonia

Background The visual temporal discrimination threshold (TDT) is the shortest time interval at which one can determine two stimuli to be asynchronous and meets criteria for a valid endophenotype in adult-onset idiopathic focal dystonia, a poorly …

Dystonia

An overview of my research on Dystonia.